Paroxysmal Dyskinesia
Gene: KCNA2

KCNA2 (potassium voltage-gated channel subfamily A member 2)
EnsemblGeneIds (GRCh38): ENSG00000177301
EnsemblGeneIds (GRCh37): ENSG00000177301
OMIM: 176262, Gene2Phenotype
KCNA2 is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variants in this gene primarily cause a seizure disorder though at least one family reported with episodic ataxia.
Created: 6 Sep 2020, 6:45 a.m. | Last Modified: 6 Sep 2020, 6:45 a.m.

Panel Version: 0.39

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic ataxia; Epileptic encephalopathy, early infantile, 32 616366

Publications

Created: 6 Sep 2020, 6:45 a.m.
Last Modified: 6 Sep 2020, 6:45 a.m.
Panel version: 0.39

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Royal Children's Hospital Neurology Department
Victorian Clinical Genetics Services

Phenotypes

Episodic ataxia
Epileptic encephalopathy, early infantile, 32, MIM# 616366

OMIM

176262

Clinvar variants

Variants in KCNA2

Penetrance

None

Publications

Panels with this gene